Canonical Allele Identifier: CA2580086479

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1973256
• ClinVar RCV Id: RCV002735848

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915329del , CM000674.2:g.51915329del	GRCh38
NC_000012.11:g.52309113del , CM000674.1:g.52309113del	GRCh37
NC_000012.10:g.50595380del	NCBI36
NG_009549.1:g.12912del , LRG_543:g.12912del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.607del	ENSP00000446724.2:p.Thr203ArgfsTer8
ENST00000551576.6:c.877del	ENSP00000455848.2:p.Thr293ArgfsTer8
ENST00000552678.2:c.877del	ENSP00000457394.2:p.Thr293ArgfsTer8
ENST00000388922.9:c.877del MANE Select	ENSP00000373574.4:p.Thr293ArgfsTer8
ENST00000388922.8:c.877del	ENSP00000373574.4:p.Thr293ArgfsTer8
ENST00000419526.6:c.355del	ENSP00000392492.2:p.Thr119ArgfsTer8
ENST00000550683.5:c.919del	ENSP00000447884.1:p.Thr307ArgfsTer8
NM_000020.2:c.877del , LRG_543t1:c.877del	NP_000011.2:p.Thr293ArgfsTer8
NM_001077401.1:c.877del	NP_001070869.1:p.Thr293ArgfsTer8
XM_005269235.2:c.877del	XP_005269292.1:p.Thr293ArgfsTer8
XM_011539008.1:c.607del	XP_011537310.1:p.Thr203ArgfsTer8
XM_024449279.1:c.88del	XP_024305047.1:p.Thr30ArgfsTer8
NM_000020.3:c.877del MANE Select	NP_000011.2:p.Thr293ArgfsTer8
NM_001077401.2:c.877del	NP_001070869.1:p.Thr293ArgfsTer8